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22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development

✍ Scribed by Peter J. Scambler


Book ID
105938546
Publisher
Springer
Year
2010
Tongue
English
Weight
351 KB
Volume
31
Category
Article
ISSN
0172-0643

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Haploinsufficiency of TBX1, encoding a Tbox transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge /22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whethe

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## Abstract ## BACKGROUND: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. __TBX1__ has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted __TBX1,__ which may affect the function of the sole __TB